GXYLT1
geneOn this page
Also known as FLJ43151
Summary
GXYLT1 (glucoside xylosyltransferase 1, HGNC:27482) is a protein-coding gene on chromosome 12q12, encoding Glucoside xylosyltransferase 1 (Q4G148). Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).
Source: NCBI Gene 283464 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_173601
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27482 |
| Approved symbol | GXYLT1 |
| Name | glucoside xylosyltransferase 1 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ43151 |
| Ensembl gene | ENSG00000151233 |
| Ensembl biotype | protein_coding |
| OMIM | 613321 |
| Entrez | 283464 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000280876, ENST00000398675, ENST00000905120, ENST00000905121
RefSeq mRNA: 2 — MANE Select: NM_173601
NM_001099650, NM_173601
CCDS: CCDS41771, CCDS41772
Canonical transcript exons
ENST00000398675 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000998426 | 42105818 | 42106069 |
| ENSE00001098513 | 42081845 | 42087947 |
| ENSE00001098514 | 42097910 | 42098033 |
| ENSE00001098515 | 42097442 | 42097614 |
| ENSE00001219672 | 42109566 | 42109691 |
| ENSE00001219680 | 42119000 | 42119171 |
| ENSE00001219699 | 42144426 | 42144874 |
| ENSE00001534300 | 42129759 | 42129851 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 87.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3444 / max 57.2026, expressed in 1672 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130477 | 3.1328 | 1384 |
| 130475 | 2.2116 | 1305 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 87.41 | gold quality |
| parietal pleura | UBERON:0002400 | 86.91 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.28 | gold quality |
| visceral pleura | UBERON:0002401 | 86.28 | gold quality |
| placenta | UBERON:0001987 | 86.22 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.44 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 83.97 | silver quality |
| thymus | UBERON:0002370 | 83.72 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 83.19 | gold quality |
| tibia | UBERON:0000979 | 82.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.75 | gold quality |
| jejunal mucosa | UBERON:0000399 | 82.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.85 | gold quality |
| seminal vesicle | UBERON:0000998 | 81.36 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 81.03 | gold quality |
| lower lobe of lung | UBERON:0008949 | 80.64 | gold quality |
| monocyte | CL:0000576 | 80.60 | gold quality |
| leukocyte | CL:0000738 | 80.21 | gold quality |
| endometrium | UBERON:0001295 | 80.09 | gold quality |
| ileal mucosa | UBERON:0000331 | 79.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.32 | gold quality |
| pericardium | UBERON:0002407 | 78.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.37 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 78.37 | gold quality |
| embryo | UBERON:0000922 | 78.36 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 78.36 | gold quality |
| mammary duct | UBERON:0001765 | 78.32 | gold quality |
| cartilage tissue | UBERON:0002418 | 78.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
357 targeting GXYLT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
Literature-anchored findings (GeneRIF, showing 3)
- We have identified two enzymes of the human glycosyltransferase 8 family, now named GXYLT1 and GXYLT2 (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside alpha1,3-d-xylosyltransferases adding the first xylose. (PMID:19940119)
- A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway. (PMID:35459861)
- Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. (PMID:37347142)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gxylt1b | ENSDARG00000022550 |
| danio_rerio | ENSDARG00000076111 | |
| mus_musculus | Gxylt1 | ENSMUSG00000036197 |
| rattus_norvegicus | Gxylt1 | ENSRNOG00000005234 |
| drosophila_melanogaster | CG11149 | FBGN0031732 |
| drosophila_melanogaster | CG9171 | FBGN0031738 |
| drosophila_melanogaster | CG15483 | FBGN0032457 |
| drosophila_melanogaster | shams | FBGN0039273 |
| caenorhabditis_elegans | bgnt-1.8 | WBGENE00008290 |
| caenorhabditis_elegans | WBGENE00009032 | |
| caenorhabditis_elegans | bgnt-1.6 | WBGENE00010167 |
| caenorhabditis_elegans | WBGENE00010694 | |
| caenorhabditis_elegans | WBGENE00010716 | |
| caenorhabditis_elegans | bgnt-1.7 | WBGENE00011779 |
| caenorhabditis_elegans | WBGENE00015982 | |
| caenorhabditis_elegans | WBGENE00017723 |
Paralogs (5): LARGE1 (ENSG00000133424), LARGE2 (ENSG00000165905), GXYLT2 (ENSG00000172986), XXYLT1 (ENSG00000173950), B4GAT1 (ENSG00000174684)
Protein
Protein identifiers
Glucoside xylosyltransferase 1 — Q4G148 (reviewed: Q4G148)
Alternative names: Glycosyltransferase 8 domain-containing protein 3
All UniProt accessions (1): Q4G148
UniProt curated annotations — full annotation on UniProt →
Function. Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
Subcellular location. Membrane.
Similarity. Belongs to the glycosyltransferase 8 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4G148-1 | 1 | yes |
| Q4G148-2 | 2 |
RefSeq proteins (2): NP_001093120, NP_775872* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002495 | Glyco_trans_8 | Family |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR051993 | Glycosyltransferase_8 | Family |
Pfam: PF01501
Catalyzed reactions (Rhea), 1 shown:
- 3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:56064)
UniProt features (9 total): glycosylation site 3, topological domain 2, chain 1, transmembrane region 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4G148-F1 | 85.06 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (3): 173, 237, 278
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 219 (showing top):
chr12q12, IWANAGA_E2F1_TARGETS_INDUCED_BY_SERUM, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_PENTOSYLTRANSFERASE_ACTIVITY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, CHICAS_RB1_TARGETS_SENESCENT, JOHNSTONE_PARVB_TARGETS_2_DN
GO Biological Process (2): protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), protein O-linked glycosylation via glucose (GO:0180059)
GO Molecular Function (4): UDP-xylosyltransferase activity (GO:0035252), UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity (GO:0140563), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein O-linked glycosylation | 2 |
| UDP-glycosyltransferase activity | 1 |
| xylosyltransferase activity | 1 |
| UDP-xylosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GXYLT1 | UGGT1 | Q9NYU2 | 895 |
| GXYLT1 | F7 | P08709 | 778 |
| GXYLT1 | POGLUT1 | Q8NBL1 | 725 |
| GXYLT1 | POGLUT2 | Q6UW63 | 628 |
| GXYLT1 | NOTCH1 | P46531 | 596 |
| GXYLT1 | ZCRB1 | Q8TBF4 | 583 |
| GXYLT1 | POGLUT3 | Q7Z4H8 | 575 |
| GXYLT1 | POFUT1 | Q9H488 | 566 |
| GXYLT1 | ZNF782 | Q6ZMW2 | 563 |
| GXYLT1 | EGF | P01133 | 523 |
| GXYLT1 | XXYLT1 | Q8NBI6 | 511 |
| GXYLT1 | EOGT | Q5NDL2 | 502 |
| GXYLT1 | TMEM117 | Q9H0C3 | 454 |
| GXYLT1 | RBM46 | Q8TBY0 | 437 |
| GXYLT1 | XYLT1 | Q86Y38 | 436 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| GXYLT1 | CANX | psi-mi:“MI:0914”(association) | 0.640 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| TOR1AIP1 | TXN | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| ALK | PIK3R2 | psi-mi:“MI:0914”(association) | 0.420 |
| IGF1R | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| TYRO3 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| GXYLT1 | P4HB | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| EPHA7 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ALPP | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| EFNA2 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| GXYLT1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| HTR1B | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| AIFM1 | HSPA12A | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD4 | PDHX | psi-mi:“MI:0914”(association) | 0.350 |
| LCN6 | HIGD1C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A10 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A9 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO11 | GXYLT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (120): P4HB (Affinity Capture-MS), CANX (Affinity Capture-MS), P2RX2 (Affinity Capture-MS), OMA1 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), ASPHD2 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), VIM (Affinity Capture-MS), GXYLT1 (Affinity Capture-MS), GXYLT1 (Synthetic Lethality), GXYLT1 (Proximity Label-MS), GXYLT1 (Affinity Capture-MS), GXYLT1 (Reconstituted Complex), GXYLT1 (Proximity Label-MS), GXYLT1 (Proximity Label-MS)
ESM2 similar proteins: A0PJZ3, A2XFP3, A2XFT5, A2XFT6, B8AIZ4, C7J0P3, O04536, O48684, O88829, P08037, P15291, P15535, Q02527, Q09327, Q0V7R1, Q0WV13, Q10470, Q10MK2, Q10MQ0, Q16842, Q3UHH8, Q4G148, Q5CAZ6, Q5K027, Q5MJS3, Q5SP46, Q5ZKI6, Q68G12, Q6DE37, Q6GX83, Q6H765, Q6KB58, Q701R2, Q70D51, Q810K9, Q8CID3, Q8GWT1, Q8IXL6, Q8RXE1, Q92184
Diamond homologs: A0PJZ3, Q3UHH8, Q4G148, Q5SP46, Q5ZKI6, Q6DE37, Q6GX83, Q810K9, Q3U4G3
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GXYLT1 | up-regulates | NOTCH1 | glycosylation |
| GXYLT1 | up-regulates | NOTCH2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 5 | 79.8× | 2e-06 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 6 | 10.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 19 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1746 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:42097436:TCTTA:T | donor_loss | 1.0000 |
| 12:42097437:CTTAC:C | donor_loss | 1.0000 |
| 12:42097438:TTA:T | donor_loss | 1.0000 |
| 12:42097439:TACAT:T | donor_loss | 1.0000 |
| 12:42097440:A:AC | donor_gain | 1.0000 |
| 12:42097440:ACA:A | donor_loss | 1.0000 |
| 12:42097441:C:CA | donor_gain | 1.0000 |
| 12:42097441:CA:C | donor_gain | 1.0000 |
| 12:42097441:CAT:C | donor_gain | 1.0000 |
| 12:42097441:CATT:C | donor_gain | 1.0000 |
| 12:42097441:CATTT:C | donor_gain | 1.0000 |
| 12:42097587:C:T | acceptor_gain | 1.0000 |
| 12:42097587:CAT:C | acceptor_gain | 1.0000 |
| 12:42097589:T:TC | acceptor_gain | 1.0000 |
| 12:42097593:C:CT | acceptor_gain | 1.0000 |
| 12:42097595:C:CT | acceptor_gain | 1.0000 |
| 12:42097596:G:T | acceptor_gain | 1.0000 |
| 12:42097611:CTTT:C | acceptor_gain | 1.0000 |
| 12:42097613:TT:T | acceptor_gain | 1.0000 |
| 12:42097615:C:CC | acceptor_gain | 1.0000 |
| 12:42098029:TCATT:T | acceptor_gain | 1.0000 |
| 12:42098030:CATTC:C | acceptor_gain | 1.0000 |
| 12:42098034:C:CC | acceptor_gain | 1.0000 |
| 12:42105814:TTACC:T | donor_loss | 1.0000 |
| 12:42105815:TACCT:T | donor_loss | 1.0000 |
| 12:42105816:AC:A | donor_gain | 1.0000 |
| 12:42105817:CC:C | donor_gain | 1.0000 |
| 12:42105829:T:TA | donor_gain | 1.0000 |
| 12:42105962:T:C | acceptor_gain | 1.0000 |
| 12:42106066:TTAA:T | acceptor_gain | 1.0000 |
AlphaMissense
2893 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:42105869:G:C | N271K | 1.000 |
| 12:42105869:G:T | N271K | 1.000 |
| 12:42105905:A:C | F259L | 1.000 |
| 12:42105905:A:T | F259L | 1.000 |
| 12:42105907:A:G | F259L | 1.000 |
| 12:42106026:T:A | D219V | 1.000 |
| 12:42106026:T:G | D219A | 1.000 |
| 12:42106032:T:A | D217V | 1.000 |
| 12:42109599:A:C | F193L | 1.000 |
| 12:42109599:A:T | F193L | 1.000 |
| 12:42109600:A:C | F193C | 1.000 |
| 12:42109601:A:G | F193L | 1.000 |
| 12:42097503:C:A | R367I | 0.999 |
| 12:42097503:C:G | R367T | 0.999 |
| 12:42097509:C:T | G365E | 0.999 |
| 12:42097513:G:C | H364D | 0.999 |
| 12:42097565:A:C | C346W | 0.999 |
| 12:42097566:C:G | C346S | 0.999 |
| 12:42097567:A:T | C346S | 0.999 |
| 12:42097583:A:C | N340K | 0.999 |
| 12:42097583:A:T | N340K | 0.999 |
| 12:42097932:A:C | N322K | 0.999 |
| 12:42097932:A:T | N322K | 0.999 |
| 12:42097939:A:G | L320P | 0.999 |
| 12:42097942:T:A | D319V | 0.999 |
| 12:42097942:T:G | D319A | 0.999 |
| 12:42097943:C:G | D319H | 0.999 |
| 12:42097944:T:A | Q318H | 0.999 |
| 12:42097944:T:G | Q318H | 0.999 |
| 12:42097948:T:A | D317V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000057471 (12:42125835 C>A,T), RS1000079230 (12:42119697 A>C), RS1000112666 (12:42098724 T>A,G), RS1000114745 (12:42131787 A>G), RS1000181488 (12:42140049 C>T), RS1000183005 (12:42090134 G>A), RS1000188262 (12:42146124 CAGAG>C,CAG), RS1000252466 (12:42132081 A>C,G), RS1000259356 (12:42111844 T>A,C), RS1000320371 (12:42120303 C>T), RS1000327793 (12:42096380 G>C), RS1000331806 (12:42111934 C>A), RS1000442396 (12:42096602 T>C), RS1000459380 (12:42135771 G>A,C), RS1000560306 (12:42094738 A>C)
Disease associations
OMIM: gene MIM:613321 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary amenorrhea (MONDO:1060208)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2318 | Blood protein levels | 3.000000e-42 |
| GCST007821_3 | Facial attractiveness (female raters) | 6.000000e-07 |
| GCST008062_118 | Blood urea nitrogen levels | 2.000000e-08 |
| GCST009325_101 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 2.000000e-10 |
| GCST009325_76 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 7.000000e-12 |
| GCST010002_215 | Refractive error | 3.000000e-11 |
| GCST010774_11 | Essential hypertension (time to event) | 5.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009892 | facial attractiveness measurement |
| EFO:0004918 | age at diagnosis |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| 2-butenal | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | increases expression | 1 |
| Coal | increases abundance, decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): essential hypertension, primary amenorrhea